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Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

Mutations in OTOF, encoding otoferlin, cause non-syndromic recessive hearing loss. The goal of our study was to define the identities and frequencies of OTOF mutations in a model population. We screened a cohort of 557 large consanguineous Pakistani families segregating recessive, severe-to-profound...

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Autores principales: Choi, BY, Ahmed, ZM, Riazuddin, S, Bhinder, MA, Shahzad, M, Husnain, T, Griffith, AJ, Friedman, TB
Formato: Artigo
Lenguaje:Inglês
Publicado: 2009
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3461579/
https://ncbi.nlm.nih.gov/pubmed/19250381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2008.01128.x
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